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Q9NTJ4 (MA2C1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alpha-mannosidase 2C1

EC=3.2.1.24
Alternative name(s):
Alpha mannosidase 6A8B
Alpha-D-mannoside mannohydrolase
Mannosidase alpha class 2C member 1
Gene names
Name:MAN2C1
Synonyms:MANA, MANA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1040 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.

Cofactor

Binds 1 zinc ion per subunit By similarity.

Sequence similarities

Belongs to the glycosyl hydrolase 38 family.

Sequence caution

The sequence AAC00190.2 differs from that shown. Reason: Frameshift at position 1013.

The sequence AAC00568.1 differs from that shown. Reason: Frameshift at position 1013.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NTJ4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NTJ4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     913-935: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9NTJ4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     201-299: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9NTJ4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     650-682: ALVTVPSMGYAPVPPPTSLQPLLPQQPVFVVQE → GLTPSPGDSA...DSASRPPPTK
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10401040Alpha-mannosidase 2C1
PRO_0000206907

Sites

Active site3721Nucleophile By similarity
Metal binding2601Zinc By similarity
Metal binding2621Zinc By similarity
Metal binding3721Zinc By similarity
Metal binding5771Zinc By similarity

Natural variations

Alternative sequence201 – 29999Missing in isoform 3.
VSP_046395
Alternative sequence650 – 68233ALVTV…FVVQE → GLTPSPGDSAQHGLCSCSSP HLTAAPAAPAACVRSARAPT DSASRPPPTK in isoform 4.
VSP_046895
Alternative sequence913 – 93523Missing in isoform 2.
VSP_046375
Natural variant3231R → C. Ref.6
Corresponds to variant rs200595616 [ dbSNP | Ensembl ].
VAR_069180
Natural variant8181R → H.
Corresponds to variant rs58557444 [ dbSNP | Ensembl ].
VAR_061192
Natural variant9501V → M.
Corresponds to variant rs3803467 [ dbSNP | Ensembl ].
VAR_049211
Natural variant9601V → I. Ref.3
Corresponds to variant rs3803466 [ dbSNP | Ensembl ].
VAR_021914
Natural variant9751R → K.
Corresponds to variant rs5745934 [ dbSNP | Ensembl ].
VAR_049212

Experimental info

Sequence conflict61A → F in AAC00190. Ref.1
Sequence conflict141L → F in AAC00190. Ref.1
Sequence conflict241L → I in AAC00190. Ref.1
Sequence conflict1701M → I in AAC00190. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 2B40AE6E03AC1E3C

FASTA1,040115,835
        10         20         30         40         50         60 
MAAAPALKHW RTTLERVEKF VSPLYFTDCN LRGRLFGASC PVAVLSSFLT PERLPYQEAV 

        70         80         90        100        110        120 
QRDFRPAQVG DSFGPTWWTC WFRVELTIPE AWVGQEVHLC WESDGEGLVW RDGEPVQGLT 

       130        140        150        160        170        180 
KEGEKTSYVL TDRLGERDPR SLTLYVEVAC NGLLGAGKGS MIAAPDPEKM FQLSRAELAV 

       190        200        210        220        230        240 
FHRDVHMLLV DLELLLGIAK GLGKDNQRSF QALYTANQMV NVCDPAQPET FPVAQALASR 

       250        260        270        280        290        300 
FFGQHGGESQ HTIHATGHCH IDTAWLWPFK ETVRKCARSW VTALQLMERN PEFIFACSQA 

       310        320        330        340        350        360 
QQLEWVKSRY PGLYSRIQEF ACRGQFVPVG GTWVEMDGNL PSGEAMVRQF LQGQNFFLQE 

       370        380        390        400        410        420 
FGKMCSEFWL PDTFGYSAQL PQIMHGCGIR RFLTQKLSWN LVNSFPHHTF FWEGLDGSRV 

       430        440        450        460        470        480 
LVHFPPGDSY GMQGSVEEVL KTVANNRDKG RANHSAFLFG FGDGGGGPTQ TMLDRLKRLS 

       490        500        510        520        530        540 
NTDGLPRVQL SSPRQLFSAL ESDSEQLCTW VGELFLELHN GTYTTHAQIK KGNRECERIL 

       550        560        570        580        590        600 
HDVELLSSLA LARSAQFLYP AAQLQHLWRL LLLNQFHDVV TGSCIQMVAE EAMCHYEDIR 

       610        620        630        640        650        660 
SHGNTLLSAA AAALCAGEPG PEGLLIVNTL PWKRIEVMAL PKPGGAHSLA LVTVPSMGYA 

       670        680        690        700        710        720 
PVPPPTSLQP LLPQQPVFVV QETDGSVTLD NGIIRVKLDP TGRLTSLVLV ASGREAIAEG 

       730        740        750        760        770        780 
AVGNQFVLFD DVPLYWDAWD VMDYHLETRK PVLGQAGTLA VGTEGGLRGS AWFLLQISPN 

       790        800        810        820        830        840 
SRLSQEVVLD VGCPYVRFHT EVHWHEAHKF LKVEFPARVR SSQATYEIQF GHLQRPTHYN 

       850        860        870        880        890        900 
TSWDWARFEV WAHRWMDLSE HGFGLALLND CKYGASVRGS ILSLSLLRAP KAPDATADTG 

       910        920        930        940        950        960 
RHEFTYALMP HKGSFQDAGV IQAAYSLNFP LLALPAPSPA PATSWSAFSV SSPAVVLETV 

       970        980        990       1000       1010       1020 
KQAESSPQRR SLVLRLYEAH GSHVDCWLHL SLPVQEAILC DLLERPDPAG HLTLRDNRLK 

      1030       1040 
LTFSPFQVLS LLLVLQPPPH 

« Hide

Isoform 2 [UniParc].

Checksum: 90AFFF46F25F5294
Show »

FASTA1,017113,461
Isoform 3 [UniParc].

Checksum: F2AB8C70108FB535
Show »

FASTA941104,690
Isoform 4 [UniParc].

Checksum: D2F034EDEC3EB019
Show »

FASTA1,057117,187

References

« Hide 'large scale' references
[1]"Cloning of a human full-length cDNA encoding an alpha-mannosidase."
Li B., Ma F.-R., Shi G.-X., Zhao F.-T., Li J., Li L., Wang Y., Cai Y.-Y., Zhu L.-P.
Ji Chu Yi Xue Yu Lin Chuang 19:409-415(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[3]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-960.
Tissue: Cerebellum.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-323.
Tissue: Skin and Uterus.
[7]"Cloning of a human cDNA homologous to the cDNA encoding a rat ER alpha-mannosidase."
Zhang L.-X., Zhu L.-P., Shi W., Ma F.-R.
Zhonghua Wei Sheng Wu Xue He Mian Yi Xue Za Zhi 17:34-39(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 630-1040 (ISOFORM 1).
Tissue: Tonsil.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF044414 mRNA. Translation: AAC00190.2. Frameshift.
AL136876 mRNA. Translation: CAB66810.1.
AK225145 mRNA. No translation available.
AC068338 Genomic DNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99253.1.
BC050550 mRNA. Translation: AAH50550.1.
BC080191 mRNA. Translation: AAH80191.1.
U37248 mRNA. Translation: AAC00568.1. Sequence problems.
PIRT46931.
RefSeqNP_001243423.1. NM_001256494.1.
NP_001243424.1. NM_001256495.1.
NP_001243425.1. NM_001256496.1.
NP_006706.2. NM_006715.3.
UniGeneHs.26232.
Hs.598731.

3D structure databases

ProteinModelPortalQ9NTJ4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110296. 5 interactions.
IntActQ9NTJ4. 1 interaction.
MINTMINT-1035933.
STRING9606.ENSP00000267978.

Protein family/group databases

CAZyGH38. Glycoside Hydrolase Family 38.

PTM databases

PhosphoSiteQ9NTJ4.

Polymorphism databases

DMDM27923805.

Proteomic databases

PaxDbQ9NTJ4.
PRIDEQ9NTJ4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000267978; ENSP00000267978; ENSG00000140400. [Q9NTJ4-1]
ENST00000563622; ENSP00000454589; ENSG00000140400. [Q9NTJ4-3]
ENST00000565683; ENSP00000457788; ENSG00000140400. [Q9NTJ4-4]
ENST00000569482; ENSP00000455998; ENSG00000140400. [Q9NTJ4-2]
GeneID4123.
KEGGhsa:4123.
UCSCuc002baf.4. human. [Q9NTJ4-1]

Organism-specific databases

CTD4123.
GeneCardsGC15M075648.
HGNCHGNC:6827. MAN2C1.
HPAHPA040627.
MIM154580. gene.
neXtProtNX_Q9NTJ4.
PharmGKBPA30576.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0383.
HOGENOMHOG000048425.
HOVERGENHBG055567.
InParanoidQ9NTJ4.
KOK01191.
OMACHYEDIR.
OrthoDBEOG78M015.
PhylomeDBQ9NTJ4.
TreeFamTF300335.

Gene expression databases

ArrayExpressQ9NTJ4.
BgeeQ9NTJ4.
CleanExHS_MAN2C1.
GenevestigatorQ9NTJ4.

Family and domain databases

Gene3D1.20.1270.50. 1 hit.
3.20.110.10. 1 hit.
InterProIPR011013. Gal_mutarotase_SF_dom.
IPR011330. Glyco_hydro/deAcase_b/a-brl.
IPR027291. Glyco_hydro_38/57_N.
IPR011682. Glyco_hydro_38_C.
IPR015341. Glyco_hydro_38_cen.
IPR000602. Glyco_hydro_38_N.
[Graphical view]
PfamPF09261. Alpha-mann_mid. 1 hit.
PF01074. Glyco_hydro_38. 1 hit.
PF07748. Glyco_hydro_38C. 1 hit.
[Graphical view]
SMARTSM00872. Alpha-mann_mid. 1 hit.
[Graphical view]
SUPFAMSSF74650. SSF74650. 1 hit.
SSF88713. SSF88713. 1 hit.
ProtoNetSearch...

Other

ChiTaRSMAN2C1. human.
GenomeRNAi4123.
NextBio16188.
PROQ9NTJ4.
SOURCESearch...

Entry information

Entry nameMA2C1_HUMAN
AccessionPrimary (citable) accession number: Q9NTJ4
Secondary accession number(s): H3BMX2 expand/collapse secondary AC list , H3BQY8, H3BUT6, Q13358, Q68EM8, Q9UL64
Entry history
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries